Small variations in DNA are associated with approximately 1 in 5 of Parkinson’s cases. One of the most common genetic risk factors of developing Parkinson’s occurs in a region of DNA called the GBA gene.
This gene provides the code for producing an enzyme – Glucocerebrosidase or GCase – which is rather like a housekeeping enzyme and allows cells to break down and dispose of waste and unwanted products.
Researchers from Oxford and Harvard Universities analysed tissue from two independent collections of postmortem brain. The objective was to study variations in GBA-related activity and associated biological pathways in the aging brain and Parkinson’s.
The researchers found that there were significant reductions in the mulitple aspects of GBA-related activity in the Parkinsonian brain. This diminished activity of GBA and the reduced levels of other related proteins is important in nerve cell membranes, and therefore likely to be a potential contributor to the development of the pathology seen in Parkinson’s.
Importantly, this new data provides further justification for the ongoing Ambroxol clinical trial programme which Cure Parkinson’s, Van Andel Institute and John Black Charitable Foundation are supporting. A Phase II clinical trial of Ambroxol has recently been completed and the results of this study should be published very shortly.
